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| Regression v0.144 | TRAPPC6B | Zornitza Stark Marked gene: TRAPPC6B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.144 | TRAPPC6B | Zornitza Stark Gene: trappc6b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.144 | TRAPPC6B | Zornitza Stark Classified gene: TRAPPC6B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.144 | TRAPPC6B | Zornitza Stark Gene: trappc6b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.143 | TRAPPC6B |
Zornitza Stark gene: TRAPPC6B was added gene: TRAPPC6B was added to Regression. Sources: Expert Review Mode of inheritance for gene: TRAPPC6B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC6B were set to 28626029; 28397838; 31687267 Phenotypes for gene: TRAPPC6B were set to Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862 Review for gene: TRAPPC6B was set to GREEN Added comment: Five unrelated families reported with autosomal recessive neurodegenerative disorder characterised by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia. Sources: Expert Review |
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